Linked Data
ClinVar Variation Id:
24881
ClinVar RCV Id:
RCV000148776
RCV000231209
RCV000567555
RCV000679758
RCV000709104
RCV001818171
RCV003460487
RCV004528128
dbSNP Id:
rs377767388
ExAC:
10:43601917 G / A
gnomAD v2:
10-43601917-G-A
gnomAD v3:
10-43106469-G-A
gnomAD v4:
10-43106469-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43106469G>A , CM000672.2:g.43106469G>A | GRCh38 |
| NC_000010.10:g.43601917G>A , CM000672.1:g.43601917G>A | GRCh37 |
| NC_000010.9:g.42921923G>A | NCBI36 |
| NG_007489.1:g.34401G>A , LRG_518:g.34401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.867+1276G>A | ENSP00000480088.2:n.867+1276G>A | |
| ENST00000683007.1:n.535G>A | ||
| ENST00000340058.6:c.961G>A | ENSP00000344798.4:p.Gly321Arg | |
| ENST00000355710.8:c.961G>A MANE Select | ENSP00000347942.3:p.Gly321Arg | |
| ENST00000671844.1:c.625+3840G>A | ENSP00000500541.1:n.625+3840G>A | |
| ENST00000672389.1:c.74-4738G>A | ENSP00000500252.1:n.74-4738G>A | |
| ENST00000340058.5:c.961G>A | ENSP00000344798.4:p.Gly321Arg | |
| ENST00000355710.7:c.961G>A | ENSP00000347942.3:p.Gly321Arg | |
| ENST00000479913.1:n.556G>A | ||
| ENST00000498820.5:c.74-5630G>A | ENSP00000419080.1:n.74-5630G>A | |
| ENST00000615310.4:c.961G>A | ENSP00000480088.1:p.Gly321Arg | |
| NM_020630.4:c.961G>A , LRG_518t2:c.961G>A | NP_065681.1:p.Gly321Arg | |
| NM_020975.4:c.961G>A , LRG_518t1:c.961G>A | NP_066124.1:p.Gly321Arg | |
| XM_011540027.1:c.961G>A | XP_011538329.1:p.Gly321Arg | |
| NM_001355216.1:c.199G>A | NP_001342145.1:p.Gly67Arg | |
| NM_020630.5:c.961G>A | NP_065681.1:p.Gly321Arg | |
| NM_020975.5:c.961G>A | NP_066124.1:p.Gly321Arg | |
| NM_020975.6:c.961G>A MANE Select | NP_066124.1:p.Gly321Arg | |
| NM_020630.6:c.961G>A | NP_065681.1:p.Gly321Arg |